Linked Data
ClinVar Variation Id:
160310
dbSNP Id:
rs139616809
ExAC:
3:55514799 T / C
gnomAD v2:
3-55514799-T-C
gnomAD v3:
3-55480771-T-C
gnomAD v4:
3-55480771-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.55480771T>C , CM000665.2:g.55480771T>C | GRCh38 |
| NC_000003.11:g.55514799T>C , CM000665.1:g.55514799T>C | GRCh37 |
| NC_000003.10:g.55489839T>C | NCBI36 |
| NG_031992.1:g.11872A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264634.9:c.140+14A>G MANE Select | ENSP00000264634.4:n.140+14A>G | |
| ENST00000264634.8:c.140+14A>G | ENSP00000264634.4:n.140+14A>G | |
| ENST00000474267.5:c.140+14A>G | ENSP00000417310.1:n.140+14A>G | |
| ENST00000482079.1:c.95+14A>G | ENSP00000418184.1:n.95+14A>G | |
| ENST00000497027.5:c.95+14A>G | ENSP00000420104.1:n.95+14A>G | |
| ENST00000497817.1:n.136+14A>G | ||
| ENST00000614415.1:c.140+14A>G | ENSP00000478784.1:n.140+14A>G | |
| NM_001256105.1:c.95+14A>G | NP_001243034.1:n.95+14A>G | |
| NM_003392.4:c.140+14A>G | NP_003383.2:n.140+14A>G | |
| XM_006713324.1:c.95+14A>G | XP_006713387.1:n.95+14A>G | |
| XM_011534081.1:c.95+14A>G | XP_011532383.1:n.95+14A>G | |
| XM_011534082.1:c.95+14A>G | XP_011532384.1:n.95+14A>G | |
| XM_011534083.1:c.95+14A>G | XP_011532385.1:n.95+14A>G | |
| XM_011534084.1:c.95+14A>G | XP_011532386.1:n.95+14A>G | |
| XM_011534085.1:c.95+14A>G | XP_011532387.1:n.95+14A>G | |
| XM_011534086.1:c.95+14A>G | XP_011532388.1:n.95+14A>G | |
| XM_011534087.1:c.95+14A>G | XP_011532389.1:n.95+14A>G | |
| XM_011534088.1:c.95+14A>G | XP_011532390.1:n.95+14A>G | |
| XM_011534089.1:c.95+14A>G | XP_011532391.1:n.95+14A>G | |
| XM_011534085.2:c.95+14A>G | XP_011532387.1:n.95+14A>G | |
| XM_011534086.2:c.95+14A>G | XP_011532388.1:n.95+14A>G | |
| XM_011534087.2:c.95+14A>G | XP_011532389.1:n.95+14A>G | |
| XM_011534088.2:c.95+14A>G | XP_011532390.1:n.95+14A>G | |
| XM_017007127.1:c.182+14A>G | XP_016862616.1:n.182+14A>G | |
| XM_017007128.1:c.95+14A>G | XP_016862617.1:n.95+14A>G | |
| NM_001377271.1:c.95+14A>G | NP_001364200.1:n.95+14A>G | |
| NM_001377272.1:c.95+14A>G | NP_001364201.1:n.95+14A>G | |
| NM_003392.5:c.95+14A>G | NP_003383.3:n.95+14A>G | |
| NM_003392.7:c.140+14A>G MANE Select | NP_003383.4:n.140+14A>G |